The use of a highly informative CA repeat polymorphism within the abetalipoproteinaemia locus (4q22-24).
Abetalipoproteinaemia is a rare autosomal-recessive disorder caused by a defect in the large subunit of the microsomal triglyceride transfer protein (MTP) which is required for the assembly and secretion of apolipoprotein B-containing lipoproteins. We report here the use of a polymorphic CA dinucleotide repeat in intron 10, MTPIVS10, of the large subunit of the human MTP protein in the analysis of a pregnancy in a consanguineous family, in which abetalipoproteinaemia was suspected, although prenatal diagnosis was subsequently refused. The mutation in the family has been identified as a novel four-nucleotide insertion/duplication of exon 17 between nucleotides 2349 and 2350 of the cDNA sequence of the MTP gene. However, the marker, MTPIVS10, can be used as an alternative to the time-consuming mutation detection techniques.
Heath
K E
KE
Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, U.K.
Luong
L A
LA
Leonard
J V
JV
Chester
A
A
Shoulders
C C
CC
Scott
J
J
Middleton-Price
H R
HR
Humphries
S E
SE
Talmud
P J
PJ
D000012:Abetalipoproteinemia / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000483:Alleles; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D018900:Dinucleotide Repeats; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
D002352:Carrier Proteins; D017931:DNA Primers; D005819:Genetic Markers; C099283:Laptm4a protein, mouse; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D004247:DNA